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MW Secret Files/DC 6 Syndromes.Pdf Dr. Warwick Carter DOCTOR’S COMPANION Section Six - Syndromes SECTION SIX SYNDROMES The Symptoms, Diagnosis, Treatment and Complications of Medical Syndromes PREFACE Syndromes seem to be multiplying exponentially in modern medicine. Some are just a passing fad, or have only local significance; others, though, become diagnostic classics, and are handed down with the combination of the original describers’ surnames (the etymology of which can be quite fascinating at times), or Latin / Greek hybrids that are designed to paralyse even the most articulate tongue. Unfortunately, remembering the details about this multitude of syndromes is fast becoming an impossible task for the busy clinician. This section, and the syndromes under the appropriate symptoms in Section One, should overcome that problem by directing the doctor’s thoughts towards an appropriate, although sometimes unusual, diagnosis. Bizarre collections of presenting symptoms may suddenly resolve themselves into one of the less common, but previously recognised syndromes. Not every described syndrome can possibly be described in any tome shorter than a thousand pages, but this section should cover the majority of those encountered by most physicians. SYNDROME: A concurrence of several symptoms in a disease. Oxford English Dictionary © Warwick Carter Syndromes - 1 DOCTOR’S COMPANION Section Six - Syndromes FORMAT Syndrome name [Abbreviation] (Alternate Name) Des: Description. Characteristic symptoms and signs of the syndrome. (Symptoms and signs that are not always present are shown in brackets) Test: Pathological, radiological, electrophysiological and other appropriate tests used in the diagnosis, with the expected result of the test in a patient with the syndrome shown in (brackets). See also Section Three Investigations and Section Four Pathology Tests. Trt: Treatment. The available treatments for the syndrome, if any Comm: Comment. Further discussion on the epidemiology and complications of the syndrome See also Other Relevant Syndromes Abbreviation See Disease Name Alternate name See Disease Name NB: See list of symptoms, organs etc. in Section One to make the diagnosis of a syndrome Syndromes - 2 DOCTOR’S COMPANION Section Six - Syndromes SYNDROMES 18Q Syndrome (De Grouchy Syndrome) Des: Intellectual disability, developmental delay, short stature, epilepsy, craniofacial dysmorphism, eye movement disorders, club foot, genital hypoplasia, abnormal thumb, hypotonia (deafness, autism, microcephaly, dermatitis). Test: Chromosome analysis Trt: None specific, surgical correction of deformities Comm: Caused by random partial deletion of chromosome 18. Leucodystrophy causes many symptoms. Aarskog Syndrome Des: Reduced growth, leucopenia, anaemia, two interphalangeal joints in thumbs, narrow shoulder girdle, delayed fusion of cranial sutures, (cleft lip and palate, wide neck, retinopathy). Comm: Rare, familial. Abetalipoproteinaemia See Bassen-Kornzweig Syndrome Accelerated Conduction Syndrome See Wolff-Parkinson-White Syndrome Acquired Immune Deficiency Syndrome [AIDS] Des: Group I HIV+ (acute infection) Fever, malaise, arthropathy, sore throat, myalgia, nausea, vomiting, headache, diarrhoea, transient rash and adenitis, (convulsions, photophobia, coma) Group II HIV+ (asymptomatic) No symptoms Group III HIV+ (persistent lymphadenopathy) Generalised lymphadenopathy Group IV (AIDS related complex) Diarrhoea, fever, weight loss, sweats, skin infections (eg. tinea, shingles, warts, folliculitis) Group IV (AIDS) Syndromes - 3 DOCTOR’S COMPANION Section Six - Syndromes Dyspnoea, cough, fatigue, rashes, vomiting, headaches, lung infections (eg. Pneumocystis carinii pneumonia), Kaposi's sarcoma, intracranial lesions, coma, death Test: See Investigation Section Three Trt: See Treatment Section Five Comm: Transmitted by blood products and semen. Occurs mainly in homosexuals and IV drug users. May remain latent in Group II for years. No cure or vaccine available yet. Mortality close to 100% Acrocallosal syndrome Des: Macrocephaly, ocular hypertelorism, intellectual disability, poor motor control, polydactyly, absent corpus callosum Test: Brain MRI (AB) Phys: Autosomal recessive genetic abnormality. Very rare Acrocephalopolysyndactyly See Carpenter Syndrome Acrocephalosyndactyly of Apert See Apert Syndrome Acute Brain Syndrome (Acute Confusional Syndrome) Des: Elderly, psychotic, clouding of consciousness, disorientation, impaired thought processes, poor short-term memory, illusions, misinterpretations, hallucinations (visual, tactile, auditory, olfactory), anxiety, fear, restlessness, apathy Test: Psychiatric assessment Trt: Careful nursing, haloperidol. Other sedatives may aggravate confusion Comm: Abrupt onset. Common in suddenly hospitalised elderly patients. May settle spontaneously with time Acute Febrile Neutrophilic Dermatosis See Sweet Syndrome Adams-Stokes Syndrome See Stokes-Adams Syndrome Syndromes - 4 DOCTOR’S COMPANION Section Six - Syndromes ADHD See Attention Deficit Hyperactivity Disorder Adrenocortical Hyperfunction See Cushing Syndrome Adrenogenital Syndrome, Adult Women Des: Amenorrhoea, acne, rough skin, hirsutism, bromhidrosis, voice deepening, breast atrophy, increased musculature Test: U.17-ketosteroids (H), dexamethasone suppression test (AB), S.testosterone (H), CT scan for adrenal tumour, ultrasound for ovarian tumour Trt: Depends on cause of excess androgen. Surgery for tumours, prednisone in other cases Comm: Many different causes and sub-forms of syndrome. Pituitary, ovarian, placental and thymic forms See also Stein-Leventhal Syndrome Adrenogenital Syndrome, Child (Congenital Adrenal Hyperplasia) Des: Masculinisation of female, premature virilisation in male; hypocorticalism; (hypertension) Test: S.ACTH (H), P.androgens (H), U.pregnanetriol (H), U.17-ketosteroids (H) Trt: Glucocorticoids or mineralocorticoids long-term Comm: Due to enzymatic error of metabolism involved in cortisol synthesis Adult Respiratory Distress Syndrome See Respiratory Distress Syndrome, Adult Afferent Loop Syndrome Des: Postprandial abdominal pain relieved by vomiting, malabsorption, steatorrhoea, (pernicious anaemia) Test: Ba meal (AB), faecal fat (H) Trt: Tetracycline or lincomycin, surgical resection of afferent loop Comm: Only occurs after Bilroth II gastrectomy or gastrojejunostomy, and is caused by stasis and distension in the bowel afferent loop Syndromes - 5 DOCTOR’S COMPANION Section Six - Syndromes AIDS See Acquired Immune Deficiency Syndrome Alagille Syndrome Des: Peripheral pulmonary artery stenosis, biliary hypoplasia with variable hepatic impairment, deep set eyes, prominent forehead, mental retardation Test: Chromosomal analysis Trt: Surgical correction of arterial and biliary abnormalities Comm: Congenital condition localised to chromosome 20p11.2 Albright Syndrome (Fibrous Dysplasia; McCune-Albright Syndrome) Des: Precocious puberty, polyostotic fibrous dysplasia, (hyperthyroidism, acromegaly) Test: Skeletal X-ray (AB), S.ALP (H), U.hydroxyproline (H) Trt: Surgical correction of deformities, steroids (variable results) Comm: Usually occurs in young females Allgrove Syndrome Des: Adrenal insufficiency due to ACTH resistance, achalasia of the oesophagus, dry eyes (peripheral neuropathy, muscle weakness, impotence) Test: S.ACTH (H), S.cortisol (L). Trt: Steroids(eg. hydrocortisone, fludrocortisone) IM life long Comm: Autosomal recessive genetic disorder that normally presents in childhood. Alport Syndrome Des: Deafness, progressive glomerulonephritis, haematuria, (otitis media, renal failure, cataracts) Test: U.Hb (+), renal function tests (AB) Trt: Nil. Disease recurs in transplanted kidneys Comm: Autosomal recessive disorder of boys Amnestic Syndrome Des: Memory disturbance, alcoholism, thiamine deficit Test: LFT (AB), S.thiamine (L) Syndromes - 6 DOCTOR’S COMPANION Section Six - Syndromes Trt: Treat alcoholism Comm: Sudden onset, amnesia chronic Amniotic Band Syndrome Des: Entrapment of part of the foetus (eg. limb, foot, fingers) by a band of fibrous material in utero resulting in deformity or necrosis of the trapped tissue. Test: Ultrasound (AB or N) Trt: Postnatal plastic surgery AND/OR intranatal surgery in severe cases Comm: Incidence 1:1300 pregnancies. May be responsible for a significant proportion of club foot cases and some late miscarriages. Caused by an idiopathic tear in amniotic sac. Amsterdam Dwarf See De Lange Syndrome Anaphylactoid Purpura See Henoch-Schönlein Syndrome Andersen Syndrome (Type IV Glycogen Storage Disease) Des: Hepatosplenomegaly, glycogen storage disease caused by lack of a liver transglucosidase that is inevitably fatal in childhood Test: Liver biopsy Trt: Nil available Angelman Syndrome (Happy Puppet Syndrome) Des: Severe mental retardation, mute, ataxic gait, intractable seizures, inappropriate laughter, microcephaly, facial dysmorphia Test: Chromosome analysis Trt: Nil Comm: Sporadic occurrence (1:25,000). Due to chromosome 15 damage Anterior Chest Wall Syndrome See Tietze Syndrome Syndromes - 7 DOCTOR’S COMPANION Section Six - Syndromes Anterior Compartment Syndrome Des: Pain in anterolateral muscular compartment of the lower part of the leg, worse with exercise, (weak foot dorsiflexion) Trt: Rest, NSAIDs, physiotherapy, surgical decompression (rarely) Comm: Due to increasing pressure in the rigid compartment between tibia, fibula, deep fascia and interosseous membrane. Caused by exercise stress (eg. long distance running) Anterior Impingement Syndrome (Footballer's Ankle) Des: Chronic ankle pain worse with running
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